akusherstvoObstetrics, Gynecology and ReproductionАкушерство, Гинекология и Репродукция2313-73472500-3194IRBIS LLC10.17749/2313-7347.2018.12.1.042-052akusherstvo-469Research ArticleОRIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИASSOCIATION BETWEEN POLYMORPHIC GENES OF FOLATE METABOLISM AND EARLY PREGNANCY LOSSESАССОЦИАЦИЯ ПОЛИМОРФНЫХ МАРКЕРОВ ГЕНОВ МЕТАБОЛИЗМА ФОЛАТОВ С РАННИМИ ПОТЕРЯМИ БЕРЕМЕННОСТИТретьяковаТ. Б.TretyakovaT. B.

Третьякова Татьяна Борисовна – кандидат медицинских наук, доцент, старший научный сотрудник, руководитель лаборатории генетики.

Tretyakova Tatyana Borisovna – PhD, Associate Professor, Senior Researcher, Head of Laboratory of Genetics.

1, ul. Repina, Yekaterinburg, 620028, +7(912)2467716

ДемченкоН. С.DemchenkoN. S.

Демченко Надежда Сергеевна – кандидат медицинских наук, врач лаборатории генетики.

620028, Екатеринбург, ул. Репина, 1, +7(904)5405056

Demchenko Nadezhda Sergeevna – PhD, Geneticist, Laboratory of Genetics.

1, ul. Repina, Yekaterinburg, 620028, +7(904)5405056

medichkan@mail.ruФГБУ «Уральский научно-исследовательский институт охраны материнства и младенчества» Министерства здравоохранения Российской ФедерацииРоссияUrals Scientific Research Institute for Maternal and Child Care, Health Ministry of Russian FederationRussian Federation2018260520181214252Copyright © Tretyakova T.B., Demchenko N.S., 20182018Третьякова Т.Б., Демченко Н.С.Tretyakova T.B., Demchenko N.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.gynecology.su/jour/article/view/469Aim

Aim: to analyze the polymorphic genes of folate metabolism in women with history of non-developing pregnancy and in their embryos/fetuses in order to relate the genetic polymorphism with the risk of early pregnancy loss.

Materials and methods

Materials and methods. The main group consisted of 117 women with non-developing 1st trimester pregnancy; the comparison group included 117 women with no history of miscarriage, with physiological 1st trimester pregnancy and a normal fetal karyotype. By polymerase chain reaction in real time using DT-96 machine («DNA-technology», Russia) all women and embryos were analyzed for the following polymorphic variants: MTHFR 677 C>T, MTHFR 1298 A>C, MTRR 66 A>G, MTR 2756 A>G.

Results

Results. The women with non-developing pregnancy and chromosomal abnormalities of the fetus had a significantly higher occurrence of the MTR 2756G allele in comparison with women with non-developing pregnancy and a normal karyotype of the fetus.

Conclusion

Conclusion. The 2756G allele of the polymorphic MTR 2756 A>G gene in women with non-developing pregnancy is associated with a chromosomal imbalance of their fetuses.

Цель исследования

Цель исследования: проанализировать распределение аллелей и генотипов полиморфных генов обмена фолатов у женщин с неразвивающейся беременностью (НБ) в анамнезе и у эмбрионов/плодов для установления ассоциации с риском потери беременности на ранних сроках.

Материалы и методы

Материалы и методы. Обследовано 117 женщин с НБ I триместра (основная группа) и 117 женщин без случаев невынашивания беременности, с физиологическим течением настоящей беременности I триместра и нормальным кариотипом эмбриона/плода (группа сравнения).  У всех женщин и эмбрионов/плодов методом полимеразной цепной реакции в режиме реального времени на приборе ДТ-96 (НПО «ДНК-Технология», Россия) были проанализированы следующие полиморфизмы: MTHFR 677 С>Т, MTHFR 1298 A>C, MTRR 66 A>G, MTR 2756 A>G.

Результаты

Результаты. У женщин с НБ и хромосомной аномалией плода достоверно чаще встречался аллель MTR 2756G в сравнении с женщинами с НБ и нормальным кариотипом плода.

Заключение

Заключение. Выявлена ассоциация аллеля 2756G полиморфизма MTR 2756 A>G у женщин с хромосомным дисбалансом плода при НБ.

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The authors declare that there are no conflicts of interest present.